Research Article
[Retracted] Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer
Table 1
Showing the details of ClinVar pathogenic mutations in BRCA1 and BRCA2 genes in 141 patients with ovarian cancer.
| Patient ID | Tissue type | Gene | Exon | Mutated site | Protein | Variant types |
| 1 | Tumor tissue | BRCA1 | 10 | c.3286C>T | p.Gln1096Ter | Nonsense | 2 | Tumor tissue | BRCA1 | 10 | c.784C>T | p.Gln262Ter | Nonsense | 3 | Tumor tissue | BRCA1 | 10 | c.3214delC | p.Leu1072Ter | Nonsense | 4 | Peripheral blood | BRCA1 | 10 | c.2110_2111del | p.Asn704Cysfs7 | Frameshift | 5 | Tumor tissue | BRCA1 | 10 | c.2110_2111del | p.Asn704Cysfs7 | Frameshift | 6 | Peripheral blood | BRCA1 | 10 | c.4065_4068del | p.N1355Kfs10 | Frameshift | 7 | Tumor tissue | BRCA1 | 10 | c.4065_4068del | p.N1355Kfs10 | Frameshift | 8 | Tumor tissue | BRCA1 | 10 | c.2388_2389del | p.Thr796fs | Frameshift | 9 | Tumor tissue | BRCA1 | 10 | c.3868dupA | p.C1291Mfs4 | Frameshift | 10 | Tumor tissue | BRCA1 | 10 | c.1504_1508del | p.Leu502fs | Frameshift | 11 | Peripheral blood | BRCA1 | 10 | c.2889_2890del | p.G964Tfs6 | Frameshift | 12 | Tumor tissue | BRCA1 | 10 | c.1276del | p.S426Qfs4 | Frameshift | 13 | Tumor tissue | BRCA1 | 10 | c.2302delA | p.Ser768Valfs24 | Frameshift | 14 | Tumor tissue | BRCA1 | 12 | c.4357+1G>A | / | Splicing mutation | 15 | Tumor tissue | BRCA1 | 13 | c.4485-2A>C | / | Splicing mutation | 16 | Tumor tissue | BRCA1 | 14 | c.4566G>C | p.Tyr1522Ter | Nonsense | 17 | Tumor tissue | BRCA1 | 15 | c.4756G>T | p.Glu1586Ter | Nonsense | 18 | Tumor tissue | BRCA1 | 23 | c.5468-2A>G | / | Splicing mutation | 19 | Tumor tissue | BRCA1 | 23 | c.5511_5524del | p.W1837Cfs38 | Deletion | 20 | Tumor tissue | BRCA2 | 9 | c.755_758del | p.Asp252Valfs24 | Frameshift | 21 | Tumor tissue | BRCA2 | 11 | c.3109C>T | p.Gln1037Ter | Nonsense | 22 | Peripheral blood | BRCA2 | 11 | c.3109C>T | p.Gln1037Ter | Nonsense | 23 | Tumor tissue | BRCA2 | 11 | c.C3523T | p.Gln1175Ter | Nonsense | 24 | Tumor tissue | BRCA2 | 11 | c.5576_5579delTTAA | p.Idel1859Lysfs | Frameshift | 25 | Tumor tissue | BRCA2 | 11 | c.5164_5165delAG | p.Ser1722Tyrfs | Frameshift | 26 | Tumor tissue | BRCA2 | 11 | c.2176delG | p.V726Ffs4 | Frameshift | 27 | Peripheral blood | BRCA2 | 22 | c.8915delT | p.leu2972Cysfs4 | Deletion |
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